Related gene-specific medical variations for Gene (Select 114299) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208198	NM_007203.5(PALM2AKAP2):c.97G>A (p.Glu33Lys)	PALM2, PALM2AKAP2 (E33K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208188	NM_007203.5(PALM2AKAP2):c.449G>A (p.Arg150Gln)	PALM2, PALM2AKAP2 (R150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208187	NM_007203.5(PALM2AKAP2):c.386C>A (p.Thr129Lys)	PALM2, PALM2AKAP2 (T131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208176	NM_007203.5(PALM2AKAP2):c.289G>A (p.Glu97Lys)	PALM2, PALM2AKAP2 (E97K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208165	NM_007203.5(PALM2AKAP2):c.232A>G (p.Lys78Glu)	PALM2, PALM2AKAP2 (K80E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208154	NM_007203.5(PALM2AKAP2):c.181G>A (p.Glu61Lys)	PALM2, PALM2AKAP2 (E61K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208151	NM_007203.5(PALM2AKAP2):c.169G>A (p.Ala57Thr)	PALM2, PALM2AKAP2 (A57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208142	NM_007203.5(PALM2AKAP2):c.140G>A (p.Arg47Gln)	PALM2, PALM2AKAP2 (R47Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461847	NM_007203.5(PALM2AKAP2):c.35A>G (p.Gln12Arg)	PALM2, PALM2AKAP2 (Q12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance